中华实用儿科临床杂志
中華實用兒科臨床雜誌
중화실용인과림상잡지
Journal of Applied Clinical Pediatrics
2014年
12期
891-894
,共4页
李玉杰%马祎楠%戚豫%王俊怡%邹丽萍
李玉傑%馬祎楠%慼豫%王俊怡%鄒麗萍
리옥걸%마의남%척예%왕준이%추려평
gabbr1基因%gabbr2基因%热性惊厥%单体型
gabbr1基因%gabbr2基因%熱性驚厥%單體型
gabbr1기인%gabbr2기인%열성량궐%단체형
gabbr1 gene%gabbr2 gene%Febrile seizures%Haplotype
目的 通过突变筛查探讨代谢型γ-氨基丁酸(GABAB)受体基因(gabbr1基因和gabbr2基因)是否为单纯性热性惊厥(sFS)的致病基因,并通过相关研究证实这2个基因是否可能为热性惊厥(FS)的易感基因.方法 选择60例北方汉族家族性sFS患儿为病例组,对gabbr1基因和gabbr2基因的外显子和近端内含子区域进行PCR扩增,PCR产物纯化后进行测序用以寻找可能的突变.加入101例来自同地区汉族的健康儿童为健康对照组,应用PCR-限制性片段长度多态性的方法检测2组gabbr1基因中(rs29220、rs29230、rs29267)和gabbr2基因中(rs1000440、rs3205936、rs2304391)单核苷酸多态位点(SNPs)的基因型,使用EH1.20程序计算单体型频率,并以单体型为遗传标记进行2组相关分析.结果 在60例患儿中,未发现与sFS相关的基因突变,在基因扩增区域共发现23个SNPs位点,其中6个SNPs位于gabbr1基因,17个SNPs位点位于gabbr2基因.6个SNPs位点的基因型频率在病例组(60例)和健康对照组(101例)之间的分布均符合Hardy-Weinberg平衡.6个SNPs位点的基因频率和基因型频率在2组人群中的分布差异无统计学意义(P＞0.05).gabbr1基因3个SNPs位点构建的单体型频率和gabbr2基因3个SNPs位点构建的单体型频率在2组间差异也无统计学意义(P＞0.05).结论 GABAB受体基因(gabbr1基因和gabbr2基因)中未发现与sFS有关的突变,GABAB受体基因与FS也不具有相关性,GABAB受体基因可能不是中国北方汉族人群sFS的易感基因.
目的 通過突變篩查探討代謝型γ-氨基丁痠(GABAB)受體基因(gabbr1基因和gabbr2基因)是否為單純性熱性驚厥(sFS)的緻病基因,併通過相關研究證實這2箇基因是否可能為熱性驚厥(FS)的易感基因.方法 選擇60例北方漢族傢族性sFS患兒為病例組,對gabbr1基因和gabbr2基因的外顯子和近耑內含子區域進行PCR擴增,PCR產物純化後進行測序用以尋找可能的突變.加入101例來自同地區漢族的健康兒童為健康對照組,應用PCR-限製性片段長度多態性的方法檢測2組gabbr1基因中(rs29220、rs29230、rs29267)和gabbr2基因中(rs1000440、rs3205936、rs2304391)單覈苷痠多態位點(SNPs)的基因型,使用EH1.20程序計算單體型頻率,併以單體型為遺傳標記進行2組相關分析.結果 在60例患兒中,未髮現與sFS相關的基因突變,在基因擴增區域共髮現23箇SNPs位點,其中6箇SNPs位于gabbr1基因,17箇SNPs位點位于gabbr2基因.6箇SNPs位點的基因型頻率在病例組(60例)和健康對照組(101例)之間的分佈均符閤Hardy-Weinberg平衡.6箇SNPs位點的基因頻率和基因型頻率在2組人群中的分佈差異無統計學意義(P＞0.05).gabbr1基因3箇SNPs位點構建的單體型頻率和gabbr2基因3箇SNPs位點構建的單體型頻率在2組間差異也無統計學意義(P＞0.05).結論 GABAB受體基因(gabbr1基因和gabbr2基因)中未髮現與sFS有關的突變,GABAB受體基因與FS也不具有相關性,GABAB受體基因可能不是中國北方漢族人群sFS的易感基因.
목적 통과돌변사사탐토대사형γ-안기정산(GABAB)수체기인(gabbr1기인화gabbr2기인)시부위단순성열성량궐(sFS)적치병기인,병통과상관연구증실저2개기인시부가능위열성량궐(FS)적역감기인.방법 선택60례북방한족가족성sFS환인위병례조,대gabbr1기인화gabbr2기인적외현자화근단내함자구역진행PCR확증,PCR산물순화후진행측서용이심조가능적돌변.가입101례래자동지구한족적건강인동위건강대조조,응용PCR-한제성편단장도다태성적방법검측2조gabbr1기인중(rs29220、rs29230、rs29267)화gabbr2기인중(rs1000440、rs3205936、rs2304391)단핵감산다태위점(SNPs)적기인형,사용EH1.20정서계산단체형빈솔,병이단체형위유전표기진행2조상관분석.결과 재60례환인중,미발현여sFS상관적기인돌변,재기인확증구역공발현23개SNPs위점,기중6개SNPs위우gabbr1기인,17개SNPs위점위우gabbr2기인.6개SNPs위점적기인형빈솔재병례조(60례)화건강대조조(101례)지간적분포균부합Hardy-Weinberg평형.6개SNPs위점적기인빈솔화기인형빈솔재2조인군중적분포차이무통계학의의(P＞0.05).gabbr1기인3개SNPs위점구건적단체형빈솔화gabbr2기인3개SNPs위점구건적단체형빈솔재2조간차이야무통계학의의(P＞0.05).결론 GABAB수체기인(gabbr1기인화gabbr2기인)중미발현여sFS유관적돌변,GABAB수체기인여FS야불구유상관성,GABAB수체기인가능불시중국북방한족인군sFS적역감기인.
Objective To investigate whether the gamma-aminobutyric acid (GABAB) receptor genes,including gabbr1 gene and gabbr2 gene,are the susceptible genes for simple febrile seizures (sFS) by screening mutation of gabbr1 gene and gabbr2 gene and to study the possible association between sFS and the 2 genes.Methods All exons and flanking introns of gabbr1 gene and gabbr2 gene were amplified with polymerase chain reaction (PCR) and sequenced to screen the possible mutation on 60 children with sFS in the northern China in Han nationality population.One hundred and one healthy children from the same area were selected as controls,and the genotypes of single nucleotiole polymorphisms (SNPS) (rs29220,rs29230,rs29267 on gabbr1 gene and rs1000440,rs3205936,rs2304391 on gabbr2 gene) were typed by PCR-restriction fragment length polymorphism.EH1.20 software was used to estimate haplotype frequency to study the association with the haplotype as genetic marker between case group and control group.Results No mutation associated with sFS was found in the 60 sFS cases.In all sequenced regions,23 SNPs were identified in both genes:6 SNPs in gabbr1 gene and 17 SNPs in gabbr2 gene.The frequencies of the 6 SNPs were complied well with the Hardy-weinberg equilibrium in sFS group and normal group.Genotype proportions and allele frequencies of 6 SNPs were not significantly different between both groups.The haplotypes of 3 SNPs in gabbr1 gene and in gabbr2 gene distributions were not significantly different between 2 groups.Conclusions No mutations and associations were identified between sFS with both GABAB receptor genes(gabbr1 gene and gabbr2 gene).They may not be the susceptibility gene for simple febrile seizures in Han nationality population in northern China.
